“I’d Go Anywhere for Him” – Whitnie

05Nov 2022

“Awareness” – Lacy

I find myself thinking a lot about awareness. It has been a buzzword in our lives for the past five years since we found out that Jacob has Creatine Transporter Deficiency. It is a diagnosis we never thought we would get mainly because we had never even heard of it. Continue reading

16Dec 2021

Creatine Decoded: ACD-Funded CTD Drug Repurposing Fellowships Make Progress in Year One

Patient Samples from Coriell Biobank in Studies Seeking to Understand CTD Mutations & Explore Existing FDA-Approved Drugs as Potential Treatments

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about.

Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org. Continue reading

29Nov 2021

“A Diagnosis is a Chance at Hope” – Carlie

By way of background, I am new to the CCDS community. Our 8-year-old son was diagnosed with CTD on 1 April 2021. Yes, April Fools Day, almost appropriate given the various false starts we had on the diagnosis path.

Up until that day in April, plenty of letters had been thrown our way – GDD, SPD, ID, ASD. But for me nothing really explained what was happening to our little man. It is easy to look back with hindsight and see the times we were dismissed by doctors, despite the red flags. We were close several times to maybe heading down the right path, but a doctor didn’t want to see us as a patient (our urine sample was elevated but not out of the realm of normal) or I was told we should just wait and see how he develops (only to also be told the early years are the most important for intervention, sigh). Continue reading

23Nov 2021

“Our Life with Epilepsy” – Nathan

Hello again, CCDS family, sorry it has been a while since I have contributed to the blog, but I am thankful to have the chance to be talking to you again. As this is Epilepsy Awareness Month, I wanted to share some of my thoughts, feeling, and, most importantly, the lessons I am learning along the way. I tried to keep this blog post short but that didn’t work. I also tried to keep it honest, so I did not hold back. Continue reading

27Oct 2021

“Cerebral Creatine Deficiency Syndromes: The Road from Diagnosis to Therapies” – Erin

I think most parents of children with Creatine Transporter Deficiency (CTD), like me, are painfully aware of the statement, “CTD is not treatable.” The day of my son Cadman’s diagnosis (he’s now 6, and was diagnosed just before his second birthday through whole exome genetic testing), there was a slight sense of relief that we finally had an answer and our diagnostic journey had come to an end, but devastation to find out that there is no treatment available for his disorder. Continue reading

05Oct 2021

“Bye, mom” – Nancy

“Bye mom!” These were words I had longed to hear for nearly two years. Our youngest son, Sam, graduated high school in June of 2019. In October of 2019, we sold our home of 20 years in the suburbs and bought a 9-acre farm in the country. It was another step toward providing our nonprofit, Good Works Farm, a space to provide farm-based programming for individuals with special needs, like Sam. Continue reading

30Sep 2021

Creatine Decoded: The power of patient registries and patient-led research initiatives

How CCDS Families and Caregivers Can Drive ResearchCreatine Decoded: The power of patient registries and patient-led research initiatives – How CCDS Families and Caregivers Can Drive Research

#CreatineDecoded is a quarterly educational essay series that sheds light on research relevant for Cerebral Creatine Deficiency Syndromes (CCDS). The essays and interviews feature community contributors, often parents, who with the help of the ACD, explore in their own words the CCDS science you want to know more about.

This interview is brought to you by Kirsten Wiebe, Science Writer at the University of British Columbia, Dr. Sylvia Stockler, MD, University of British Columbia, and Sofia Balog, ACD Patient Registry Coordinator.

Have a topic in mind? Send suggestions to Laura Trutoiu, ACD Director of Research auract@creatineinfo.org. Continue reading

04Dec 2016

Whitnie & Reid

“I’d Go Anywhere for Him” – Whitnie

Every time I pack my bags I get this funny feeling. It’s true that I hate leaving them behind, but I can’t not go. I feel this calling and it’s bigger than me. It’s bigger than any of us. I’ve traveled to ten cities and two countries for CTD, but I’m not complaining. I’d go anywhere for him.

Right now, I’m sitting here on an airplane bound for Paris and I have butterflies in my stomach. I’m uneasy alright. But, it’s not because I’m speaking publicly at a conference in two days. That’s something I’ve done more times than I can count – and I’m prepared.

I know how important this time is. I know who will be there and how many people need me to bring my A-game. But, there is just one person that I can’t stop thinking about.

three playful children

Photos by Sara K Blanco Life Style Photography

He’s home right now looking for me and I’m not there. He wants to honk my nose, but I’m a thousand miles away. I’m uneasy because he’s counting on me and I don’t want to let him down.

When Tuesday rolls around, the butterflies will be gone. I’ll get on stage and deliver like I’ve promised him. I’ll make it count like I always do. It’s what I have to do – for Reid and all the others just like him.

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Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.